Format

Send to:

Choose Destination

ABCB8 ATP binding cassette subfamily B member 8 [ Homo sapiens (human) ]

Gene ID: 11194, updated on 13-Mar-2020

Summary

Official Symbol
ABCB8provided by HGNC
Official Full Name
ATP binding cassette subfamily B member 8provided by HGNC
Primary source
HGNC:HGNC:49
See related
Ensembl:ENSG00000197150 MIM:605464
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MABC1; M-ABC1; MITOSUR; EST328128
Summary
This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in testis (RPKM 5.6), endometrium (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See ABCB8 in Genome Data Viewer
Location:
7q36.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (151028422..151047782)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150725510..150744869)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NOS3 5' regulatory region Neighboring gene nitric oxide synthase 3 Neighboring gene autophagy related 9B Neighboring gene acid sensing ion channel subunit 3 Neighboring gene cyclin dependent kinase 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ASIC3

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
ATP-binding cassette (ABC) transporter complex TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mitochondrial potassium channel ATP-binding subunit
Names
ATP-binding cassette sub-family B member 8, mitochondrial
ATP-binding cassette, sub-family B (MDR/TAP), member 8
mitochondrial ABC protein
mitochondrial ATP-binding cassette 1
mitochondrial sulfonylurea-receptor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282291.2NP_001269220.1  mitochondrial potassium channel ATP-binding subunit isoform a

    See identical proteins and their annotated locations for NP_001269220.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC010973, AK002018, AK222911, HY000407
    Consensus CDS
    CCDS64799.1
    UniProtKB/Swiss-Prot
    Q9NUT2
    Related
    ENSP00000297504.6, ENST00000297504.10
    Conserved Domains (3) summary
    cd03249
    Location:472710
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    COG1132
    Location:165713
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:162425
    ABC_membrane; ABC transporter transmembrane region
  2. NM_001282292.2NP_001269221.1  mitochondrial potassium channel ATP-binding subunit isoform c

    See identical proteins and their annotated locations for NP_001269221.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AC010973, BC141836, HY000407
    Consensus CDS
    CCDS64800.1
    UniProtKB/Swiss-Prot
    Q9NUT2
    Related
    ENSP00000418271.1, ENST00000498578.5
    Conserved Domains (3) summary
    cd03249
    Location:455668
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    COG1132
    Location:148671
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:145408
    ABC_membrane; ABC transporter transmembrane region
  3. NM_001282293.1NP_001269222.1  mitochondrial potassium channel ATP-binding subunit isoform d

    See identical proteins and their annotated locations for NP_001269222.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons in the 5' coding region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC010973, AK222911, AK294344, HY000407
    Consensus CDS
    CCDS64798.1
    UniProtKB/Swiss-Prot
    Q9NUT2
    Related
    ENSP00000438776.1, ENST00000542328.5
    Conserved Domains (3) summary
    cd03249
    Location:367605
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    COG1132
    Location:49608
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:49320
    ABC_membrane; ABC transporter transmembrane region
  4. NM_007188.5NP_009119.2  mitochondrial potassium channel ATP-binding subunit isoform b

    See identical proteins and their annotated locations for NP_009119.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC010973, AK222911
    Consensus CDS
    CCDS5913.1
    UniProtKB/Swiss-Prot
    Q9NUT2
    Related
    ENSP00000351717.4, ENST00000358849.8
    Conserved Domains (3) summary
    cd03249
    Location:455693
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    COG1132
    Location:148696
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:145408
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    151028422..151047782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center